FOXE3

This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia.

forkhead box E3

Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734).

During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity).

Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity).

Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye (PubMed:27218149).

Anatomical structure morphogenesis Source: GO_Central
Cell development Source: Ensembl
Cell differentiation Source: GO_Central
Ciliary body morphogenesis Source: UniProtKB
Cornea development in camera-type eye Source: UniProtKB
Eye development Source: UniProtKB
Iris morphogenesis Source: UniProtKB
Lens development in camera-type eye Source: UniProtKB
mRNA transcription by RNA polymerase II Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of lens fiber cell differentiation Source: UniProtKB
Positive regulation of lens epithelial cell proliferation Source: UniProtKB
Regulation of cell cycle Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Trabecular meshwork development Source: UniProtKB
Transcription by RNA polymerase II Source: MGI

Nucleus

Anterior segment dysgenesis 2 (ASGD2):
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive.
Cataract 34, multiple types (CTRCT34):
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Aortic aneurysm, familial thoracic 11 (AAT11):
A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.